Diagnosis and Treatment

Advanced therapies are innovative treatments based on genetic material, stem cells and tissues - an emerging sector that offers new opportunities for the diagnosis and treatment of serious conditions where conventional treatment is ineffective or does not exist, as in the case of rare genetic conditions.

The clinical research developed in the foundation's institutes has turned the promise made to patients in 1990 into a reality, saved numerous children, and changed the life of people and their families. We will therefore be continuing to promote clinical trials that lead to more treatments for rare genetic conditions.

There are conditions which are so rare that they don't even have a name, affecting patients who fight for their life without even knowing who or what they're fighting. Obtaining a diagnosis is essential for changing the course of the disorder and improving sufferers' quality of life.

A test carried out using a blood sample taken from the heels of newborns, for the early identification of approximately 40 metabolic disorders where it is possible to intervene promptly with targeted treatment, even in the asymptomatic phase.